chr5:1308437:G>A Detail (hg38)

Information

Genome

Assembly Position
hg19 chr5:1,308,552-1,308,552 View the variant detail on this assembly version.
hg38 chr5:1,308,437-1,308,437

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.099
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.002 Testicular Neoplasms [Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell c... GAD 20543847 Detail
0.131 Pancreatic Neoplasm NA GAD Detail
Annotation

Annotations

DescrptionSourceLinks
[Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer.] DisGeNET Detail
NA DisGeNET Detail
Gene
-
dbSNP
rs4635969 dbSNP
Genome
hg38
Position
chr5:1,308,437-1,308,437
Variant Type
snv
Reference Allele
G
Alternative Allele
A
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs4635969
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0986
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1653
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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